| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112801349dup | CA10602944 | APC | c.800dup (p.Glu268ArgfsTer9) n.856dup c.*806dup (n.*806dup) c.746dup (p.Glu250ArgfsTer9) c.830dup (p.Glu278ArgfsTer9) c.725dup (p.Glu243ArgfsTer9) c.716dup (p.Glu240ArgfsTer9) c.623dup (p.Glu209ArgfsTer9) c.-236dup (n.-236dup) | ClinVar dbSNP |
| 5 | g.112801349del | CA279748 | APC | c.800del (p.Gly267GlufsTer26) n.856del c.*806del (n.*806del) c.746del (p.Gly249GlufsTer26) c.800del (p.Gly267GlufsTer13) c.830del (p.Gly277GlufsTer26) c.725del (p.Gly242GlufsTer26) c.716del (p.Gly239GlufsTer26) c.623del (p.Gly208GlufsTer26) c.-236del (n.-236del) | ClinVar dbSNP |
| 5 | g.112801349G>A | CA049608 | APC | c.800G>A (p.Gly267Glu) n.856G>A c.*806G>A (n.*806G>A) c.746G>A (p.Gly249Glu) c.830G>A (p.Gly277Glu) c.725G>A (p.Gly242Glu) c.716G>A (p.Gly239Glu) c.623G>A (p.Gly208Glu) c.-236G>A (n.-236G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112801349G>C | CA16023079 | APC | c.800G>C (p.Gly267Ala) n.856G>C c.*806G>C (n.*806G>C) c.746G>C (p.Gly249Ala) c.830G>C (p.Gly277Ala) c.725G>C (p.Gly242Ala) c.716G>C (p.Gly239Ala) c.623G>C (p.Gly208Ala) c.-236G>C (n.-236G>C) | ClinVar dbSNP |
| 5 | g.112801349G= | CA1573510192 | APC | c.800G= (p.Gly267=) n.856G= c.*806G= (n.*806G=) c.746G= (p.Gly249=) c.830G= (p.Gly277=) c.725G= (p.Gly242=) c.716G= (p.Gly239=) c.623G= (p.Gly208=) c.-236G= (n.-236G=) | |
| 5 | g.112801349G>T | CA16023080 | APC | c.800G>T (p.Gly267Val) n.856G>T c.*806G>T (n.*806G>T) c.746G>T (p.Gly249Val) c.830G>T (p.Gly277Val) c.725G>T (p.Gly242Val) c.716G>T (p.Gly239Val) c.623G>T (p.Gly208Val) c.-236G>T (n.-236G>T) | dbSNP |
| 5 | g.112801350A>C | CA445755640 | APC | c.801A>C (p.Gly267=) n.857A>C c.*807A>C (n.*807A>C) c.747A>C (p.Gly249=) c.831A>C (p.Gly277=) c.726A>C (p.Gly242=) c.717A>C (p.Gly239=) c.624A>C (p.Gly208=) c.-235A>C (n.-235A>C) | |
| 5 | g.112801350A>G | CA445755641 | APC | c.801A>G (p.Gly267=) n.857A>G c.*807A>G (n.*807A>G) c.747A>G (p.Gly249=) c.831A>G (p.Gly277=) c.726A>G (p.Gly242=) c.717A>G (p.Gly239=) c.624A>G (p.Gly208=) c.-235A>G (n.-235A>G) | ClinVar dbSNP |
| 5 | g.112801350A>T | CA445755642 | APC | c.801A>T (p.Gly267=) n.857A>T c.*807A>T (n.*807A>T) c.747A>T (p.Gly249=) c.831A>T (p.Gly277=) c.726A>T (p.Gly242=) c.717A>T (p.Gly239=) c.624A>T (p.Gly208=) c.-235A>T (n.-235A>T) | |
| 5 | g.112801351G>A | CA16023081 | APC | c.802G>A (p.Glu268Lys) n.858G>A c.*808G>A (n.*808G>A) c.748G>A (p.Glu250Lys) c.832G>A (p.Glu278Lys) c.727G>A (p.Glu243Lys) c.718G>A (p.Glu240Lys) c.625G>A (p.Glu209Lys) c.-234G>A (n.-234G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112801351G>C | CA16023082 | APC | c.802G>C (p.Glu268Gln) n.858G>C c.*808G>C (n.*808G>C) c.748G>C (p.Glu250Gln) c.832G>C (p.Glu278Gln) c.727G>C (p.Glu243Gln) c.718G>C (p.Glu240Gln) c.625G>C (p.Glu209Gln) c.-234G>C (n.-234G>C) | dbSNP |
| 5 | g.112801351G= | CA1573510201 | APC | c.802G= (p.Glu268=) n.858G= c.*808G= (n.*808G=) c.748G= (p.Glu250=) c.832G= (p.Glu278=) c.727G= (p.Glu243=) c.718G= (p.Glu240=) c.625G= (p.Glu209=) c.-234G= (n.-234G=) | |
| 5 | g.112801351G>T | CA16023083 | APC | c.802G>T (p.Glu268Ter) n.858G>T c.*808G>T (n.*808G>T) c.748G>T (p.Glu250Ter) c.832G>T (p.Glu278Ter) c.727G>T (p.Glu243Ter) c.718G>T (p.Glu240Ter) c.625G>T (p.Glu209Ter) c.-234G>T (n.-234G>T) | ClinVar dbSNP COSMIC |
| 5 | g.112801352A>C | CA16023084 | APC | c.803A>C (p.Glu268Ala) n.859A>C c.*809A>C (n.*809A>C) c.749A>C (p.Glu250Ala) c.833A>C (p.Glu278Ala) c.728A>C (p.Glu243Ala) c.719A>C (p.Glu240Ala) c.626A>C (p.Glu209Ala) c.-233A>C (n.-233A>C) | |
| 5 | g.112801352A>G | CA16023085 | APC | c.803A>G (p.Glu268Gly) n.859A>G c.*809A>G (n.*809A>G) c.749A>G (p.Glu250Gly) c.833A>G (p.Glu278Gly) c.728A>G (p.Glu243Gly) c.719A>G (p.Glu240Gly) c.626A>G (p.Glu209Gly) c.-233A>G (n.-233A>G) | |
| 5 | g.112801352A>T | CA16023086 | APC | c.803A>T (p.Glu268Val) n.859A>T c.*809A>T (n.*809A>T) c.749A>T (p.Glu250Val) c.833A>T (p.Glu278Val) c.728A>T (p.Glu243Val) c.719A>T (p.Glu240Val) c.626A>T (p.Glu209Val) c.-233A>T (n.-233A>T) | |
| 5 | g.112801354del | CA2582341407 | APC | c.805del (p.Ile269SerfsTer24) n.861del c.*811del (n.*811del) c.751del (p.Ile251SerfsTer24) c.805del (p.Ile269SerfsTer11) c.835del (p.Ile279SerfsTer24) c.730del (p.Ile244SerfsTer24) c.721del (p.Ile241SerfsTer24) c.628del (p.Ile210SerfsTer24) c.-231del (n.-231del) | ClinVar |
| 5 | g.112801353A= | CA1573510209 | APC | c.804A= (p.Glu268=) n.860A= c.*810A= (n.*810A=) c.750A= (p.Glu250=) c.834A= (p.Glu278=) c.729A= (p.Glu243=) c.720A= (p.Glu240=) c.627A= (p.Glu209=) c.-232A= (n.-232A=) | |
| 5 | g.112801353A>C | CA16023087 | APC | c.804A>C (p.Glu268Asp) n.860A>C c.*810A>C (n.*810A>C) c.750A>C (p.Glu250Asp) c.834A>C (p.Glu278Asp) c.729A>C (p.Glu243Asp) c.720A>C (p.Glu240Asp) c.627A>C (p.Glu209Asp) c.-232A>C (n.-232A>C) | ClinVar dbSNP |
| 5 | g.112801353A>G | CA124954112 | APC | c.804A>G (p.Glu268=) n.860A>G c.*810A>G (n.*810A>G) c.750A>G (p.Glu250=) c.834A>G (p.Glu278=) c.729A>G (p.Glu243=) c.720A>G (p.Glu240=) c.627A>G (p.Glu209=) c.-232A>G (n.-232A>G) | ClinVar dbSNP |
| 5 | g.112801353A>T | CA16023088 | APC | c.804A>T (p.Glu268Asp) n.860A>T c.*810A>T (n.*810A>T) c.750A>T (p.Glu250Asp) c.834A>T (p.Glu278Asp) c.729A>T (p.Glu243Asp) c.720A>T (p.Glu240Asp) c.627A>T (p.Glu209Asp) c.-232A>T (n.-232A>T) | ClinVar |
| 5 | g.112801354A= | CA1573510218 | APC | c.805A= (p.Ile269=) n.861A= c.*811A= (n.*811A=) c.751A= (p.Ile251=) c.835A= (p.Ile279=) c.730A= (p.Ile244=) c.721A= (p.Ile241=) c.628A= (p.Ile210=) c.-231A= (n.-231A=) | |
| 5 | g.112801354A>C | CA16023089 | APC | c.805A>C (p.Ile269Leu) n.861A>C c.*811A>C (n.*811A>C) c.751A>C (p.Ile251Leu) c.835A>C (p.Ile279Leu) c.730A>C (p.Ile244Leu) c.721A>C (p.Ile241Leu) c.628A>C (p.Ile210Leu) c.-231A>C (n.-231A>C) | |
| 5 | g.112801354A>G | CA16023090 | APC | c.805A>G (p.Ile269Val) n.861A>G c.*811A>G (n.*811A>G) c.751A>G (p.Ile251Val) c.835A>G (p.Ile279Val) c.730A>G (p.Ile244Val) c.721A>G (p.Ile241Val) c.628A>G (p.Ile210Val) c.-231A>G (n.-231A>G) | ClinVar dbSNP |
| 5 | g.112801354A>T | CA16023091 | APC | c.805A>T (p.Ile269Phe) n.861A>T c.*811A>T (n.*811A>T) c.751A>T (p.Ile251Phe) c.835A>T (p.Ile279Phe) c.730A>T (p.Ile244Phe) c.721A>T (p.Ile241Phe) c.628A>T (p.Ile210Phe) c.-231A>T (n.-231A>T) | |
| 5 | g.112801355T>A | CA16023092 | APC | c.806T>A (p.Ile269Asn) n.862T>A c.*812T>A (n.*812T>A) c.752T>A (p.Ile251Asn) c.836T>A (p.Ile279Asn) c.731T>A (p.Ile244Asn) c.722T>A (p.Ile241Asn) c.629T>A (p.Ile210Asn) c.-230T>A (n.-230T>A) | ClinVar dbSNP |
| 5 | g.112801355T>C | CA16023093 | APC | c.806T>C (p.Ile269Thr) n.862T>C c.*812T>C (n.*812T>C) c.752T>C (p.Ile251Thr) c.836T>C (p.Ile279Thr) c.731T>C (p.Ile244Thr) c.722T>C (p.Ile241Thr) c.629T>C (p.Ile210Thr) c.-230T>C (n.-230T>C) | ClinVar |
| 5 | g.112801355T>G | CA16023094 | APC | c.806T>G (p.Ile269Ser) n.862T>G c.*812T>G (n.*812T>G) c.752T>G (p.Ile251Ser) c.836T>G (p.Ile279Ser) c.731T>G (p.Ile244Ser) c.722T>G (p.Ile241Ser) c.629T>G (p.Ile210Ser) c.-230T>G (n.-230T>G) | dbSNP |
| 5 | g.112801356C>A | CA445755643 | APC | c.807C>A (p.Ile269=) n.863C>A c.*813C>A (n.*813C>A) c.753C>A (p.Ile251=) c.837C>A (p.Ile279=) c.732C>A (p.Ile244=) c.723C>A (p.Ile241=) c.630C>A (p.Ile210=) c.-229C>A (n.-229C>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112801356C= | CA1573510221 | APC | c.807C= (p.Ile269=) n.863C= c.*813C= (n.*813C=) c.753C= (p.Ile251=) c.837C= (p.Ile279=) c.732C= (p.Ile244=) c.723C= (p.Ile241=) c.630C= (p.Ile210=) c.-229C= (n.-229C=) | |
| 5 | g.112801356C>G | CA16023095 | APC | c.807C>G (p.Ile269Met) n.863C>G c.*813C>G (n.*813C>G) c.753C>G (p.Ile251Met) c.837C>G (p.Ile279Met) c.732C>G (p.Ile244Met) c.723C>G (p.Ile241Met) c.630C>G (p.Ile210Met) c.-229C>G (n.-229C>G) | dbSNP COSMIC |
| 5 | g.112801356C>T | CA124954122 | APC | c.807C>T (p.Ile269=) n.863C>T c.*813C>T (n.*813C>T) c.753C>T (p.Ile251=) c.837C>T (p.Ile279=) c.732C>T (p.Ile244=) c.723C>T (p.Ile241=) c.630C>T (p.Ile210=) c.-229C>T (n.-229C>T) | ClinVar dbSNP |
| 5 | g.112801360_112801367del | CA658760440 | APC | c.811_818del (p.Met271PhefsTer3) n.867_874del c.*817_*824del (n.*817_*824del) c.757_764del (p.Met253PhefsTer3) c.841_848del (p.Met281PhefsTer3) c.736_743del (p.Met246PhefsTer3) c.727_734del (p.Met243PhefsTer3) c.634_641del (p.Met212PhefsTer3) c.-225_-218del (n.-225_-218del) | |
| 5 | g.112801357A>C | CA16023096 | APC | c.808A>C (p.Asn270His) n.864A>C c.*814A>C (n.*814A>C) c.754A>C (p.Asn252His) c.838A>C (p.Asn280His) c.733A>C (p.Asn245His) c.724A>C (p.Asn242His) c.631A>C (p.Asn211His) c.-228A>C (n.-228A>C) | |
| 5 | g.112801357A>G | CA16023097 | APC | c.808A>G (p.Asn270Asp) n.864A>G c.*814A>G (n.*814A>G) c.754A>G (p.Asn252Asp) c.838A>G (p.Asn280Asp) c.733A>G (p.Asn245Asp) c.724A>G (p.Asn242Asp) c.631A>G (p.Asn211Asp) c.-228A>G (n.-228A>G) | |
| 5 | g.112801357A>T | CA16023098 | APC | c.808A>T (p.Asn270Tyr) n.864A>T c.*814A>T (n.*814A>T) c.754A>T (p.Asn252Tyr) c.838A>T (p.Asn280Tyr) c.733A>T (p.Asn245Tyr) c.724A>T (p.Asn242Tyr) c.631A>T (p.Asn211Tyr) c.-228A>T (n.-228A>T) | |
| 5 | g.112801358A= | CA1573510224 | APC | c.809A= (p.Asn270=) n.865A= c.*815A= (n.*815A=) c.755A= (p.Asn252=) c.839A= (p.Asn280=) c.734A= (p.Asn245=) c.725A= (p.Asn242=) c.632A= (p.Asn211=) c.-227A= (n.-227A=) | |
| 5 | g.112801358A>C | CA049883 | APC | c.809A>C (p.Asn270Thr) n.865A>C c.*815A>C (n.*815A>C) c.755A>C (p.Asn252Thr) c.839A>C (p.Asn280Thr) c.734A>C (p.Asn245Thr) c.725A>C (p.Asn242Thr) c.632A>C (p.Asn211Thr) c.-227A>C (n.-227A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112801358A>G | CA049906 | APC | c.809A>G (p.Asn270Ser) n.865A>G c.*815A>G (n.*815A>G) c.755A>G (p.Asn252Ser) c.839A>G (p.Asn280Ser) c.734A>G (p.Asn245Ser) c.725A>G (p.Asn242Ser) c.632A>G (p.Asn211Ser) c.-227A>G (n.-227A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.112801358A>T | CA16023099 | APC | c.809A>T (p.Asn270Ile) n.865A>T c.*815A>T (n.*815A>T) c.755A>T (p.Asn252Ile) c.839A>T (p.Asn280Ile) c.734A>T (p.Asn245Ile) c.725A>T (p.Asn242Ile) c.632A>T (p.Asn211Ile) c.-227A>T (n.-227A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112801359C>A | CA16023100 | APC | c.810C>A (p.Asn270Lys) n.866C>A c.*816C>A (n.*816C>A) c.756C>A (p.Asn252Lys) c.840C>A (p.Asn280Lys) c.735C>A (p.Asn245Lys) c.726C>A (p.Asn242Lys) c.633C>A (p.Asn211Lys) c.-226C>A (n.-226C>A) | ClinVar |
| 5 | g.112801359C= | CA1573510227 | APC | c.810C= (p.Asn270=) n.866C= c.*816C= (n.*816C=) c.756C= (p.Asn252=) c.840C= (p.Asn280=) c.735C= (p.Asn245=) c.726C= (p.Asn242=) c.633C= (p.Asn211=) c.-226C= (n.-226C=) | |
| 5 | g.112801359C>G | CA16023101 | APC | c.810C>G (p.Asn270Lys) n.866C>G c.*816C>G (n.*816C>G) c.756C>G (p.Asn252Lys) c.840C>G (p.Asn280Lys) c.735C>G (p.Asn245Lys) c.726C>G (p.Asn242Lys) c.633C>G (p.Asn211Lys) c.-226C>G (n.-226C>G) | ClinVar dbSNP |
| 5 | g.112801359C>T | CA445755644 | APC | c.810C>T (p.Asn270=) n.866C>T c.*816C>T (n.*816C>T) c.756C>T (p.Asn252=) c.840C>T (p.Asn280=) c.735C>T (p.Asn245=) c.726C>T (p.Asn242=) c.633C>T (p.Asn211=) c.-226C>T (n.-226C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112801360A= | CA1573510235 | APC | c.811A= (p.Met271=) n.867A= c.*817A= (n.*817A=) c.757A= (p.Met253=) c.841A= (p.Met281=) c.736A= (p.Met246=) c.727A= (p.Met243=) c.634A= (p.Met212=) c.-225A= (n.-225A=) | |
| 5 | g.112801360A>C | CA16023102 | APC | c.811A>C (p.Met271Leu) n.867A>C c.*817A>C (n.*817A>C) c.757A>C (p.Met253Leu) c.841A>C (p.Met281Leu) c.736A>C (p.Met246Leu) c.727A>C (p.Met243Leu) c.634A>C (p.Met212Leu) c.-225A>C (n.-225A>C) | ClinVar dbSNP |
| 5 | g.112801360A>G | CA014344 | APC | c.811A>G (p.Met271Val) n.867A>G c.*817A>G (n.*817A>G) c.757A>G (p.Met253Val) c.841A>G (p.Met281Val) c.736A>G (p.Met246Val) c.727A>G (p.Met243Val) c.634A>G (p.Met212Val) c.-225A>G (n.-225A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112801360A>T | CA16023103 | APC | c.811A>T (p.Met271Leu) n.867A>T c.*817A>T (n.*817A>T) c.757A>T (p.Met253Leu) c.841A>T (p.Met281Leu) c.736A>T (p.Met246Leu) c.727A>T (p.Met243Leu) c.634A>T (p.Met212Leu) c.-225A>T (n.-225A>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112801361del | CA658760442 | APC | c.812del (p.Met271ArgfsTer22) n.868del c.*818del (n.*818del) c.758del (p.Met253ArgfsTer22) c.812del (p.Met271ArgfsTer9) c.842del (p.Met281ArgfsTer22) c.737del (p.Met246ArgfsTer22) c.728del (p.Met243ArgfsTer22) c.635del (p.Met212ArgfsTer22) c.-224del (n.-224del) | |
| 5 | g.112801361T>A | CA16023104 | APC | c.812T>A (p.Met271Lys) n.868T>A c.*818T>A (n.*818T>A) c.758T>A (p.Met253Lys) c.842T>A (p.Met281Lys) c.737T>A (p.Met246Lys) c.728T>A (p.Met243Lys) c.635T>A (p.Met212Lys) c.-224T>A (n.-224T>A) | ClinVar dbSNP |